congenital muscular dystrophy-dystroglycanopathy A14

Term ID

DOID:0111233

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
• MDDGA14
• Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/23768512

References

• OMIM:615350

Ontology

Human Disease   ( DOID:0111233 )